ClinVar for MedGen (Select 314039) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066035	NM_001127222.2(CACNA1A):c.3091_3094del	CACNA1A	Microsatellite (splice acceptor variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3062223	NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs)	CACNA1A (R1025fs +2 more)	Duplication (frameshift variant)	Episodic ataxia type 2	GPathogenic
Select item 3062027	NM_001127222.2(CACNA1A):c.6128G>T (p.Gly2043Val)	CACNA1A (G2043V +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GUncertain significance
Select item 2954544	NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)	CACNA1A (G156V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2954540	NM_001127222.2(CACNA1A):c.3036G>C (p.Thr1012=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2954469	NM_001127222.2(CACNA1A):c.936C>T (p.Phe312=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2954336	NM_001127222.2(CACNA1A):c.400-4C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2954213	NM_001127222.2(CACNA1A):c.2779del (p.Asp927fs)	CACNA1A (D927fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2954006	NM_001127222.2(CACNA1A):c.4605T>G (p.Asp1535Glu)	CACNA1A (D1535E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953679	NM_001127222.2(CACNA1A):c.5154C>G (p.Ile1718Met)	CACNA1A (I1724M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953642	NM_001127222.2(CACNA1A):c.2941G>A (p.Glu981Lys)	CACNA1A (E982K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953382	NM_001127222.2(CACNA1A):c.1387G>A (p.Glu463Lys)	CACNA1A (E463K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953327	NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)	CACNA1A (M59del)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953049	NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser)	CACNA1A (F1685S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953036	NM_001127222.2(CACNA1A):c.6212_6221del (p.Gly2071fs)	CACNA1A (G2071fs +3 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2953028	NM_001127222.2(CACNA1A):c.4089+19G>A	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2952974	NM_001127222.2(CACNA1A):c.835C>A (p.Arg279Ser)	CACNA1A (R279S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952956	NM_001127222.2(CACNA1A):c.5529-1219C>A	CACNA1A (P1861T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952955	NM_001127222.2(CACNA1A):c.5356G>T (p.Ala1786Ser)	CACNA1A (A1786S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952938	NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu)	CACNA1A	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952935	NM_001127222.2(CACNA1A):c.4263C>A (p.Leu1421=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2952768	NM_001127222.2(CACNA1A):c.3742_3744del (p.Cys1248del)	CACNA1A (C1248del +2 more)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952740	NM_001127222.2(CACNA1A):c.5506G>A (p.Ala1836Thr)	CACNA1A (A1836T +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952614	NM_001127222.2(CACNA1A):c.1556-9C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2952588	NM_001127222.2(CACNA1A):c.5626-12G>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2952585	NM_001127222.2(CACNA1A):c.6755G>C (p.Gly2252Ala)	CACNA1A, LOC130063717 (G2252A +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952549	NM_001127222.2(CACNA1A):c.2279+12T>G	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2952173	NM_001127222.2(CACNA1A):c.2402dup (p.Arg802fs)	CACNA1A (R803fs +2 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2952056	NM_001127222.2(CACNA1A):c.4998G>T (p.Arg1666=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2951959	NM_001127222.2(CACNA1A):c.4388+6T>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951792	NM_001127222.2(CACNA1A):c.1725C>G (p.Ser575=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2951629	NM_001127222.2(CACNA1A):c.1355del (p.Phe452fs)	CACNA1A (F453fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951553	NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro)	CACNA1A (A841P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951551	NM_001127222.2(CACNA1A):c.539+12G>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2951541	NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val)	CACNA1A, LOC126862864 (A1391V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951536	NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GBenign
Select item 2951534	NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951405	NM_001127222.2(CACNA1A):c.5473C>T (p.Pro1825Ser)	CACNA1A (P1825S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951390	NM_001127222.2(CACNA1A):c.6672C>T (p.Asp2224=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2951352	NM_001127222.2(CACNA1A):c.2801A>G (p.His934Arg)	CACNA1A (H935R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951332	NM_001127222.2(CACNA1A):c.970dup (p.Leu324fs)	CACNA1A (L324fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951331	NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)	CACNA1A (E96*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951299	NM_001127222.2(CACNA1A):c.4389-2A>C	CACNA1A	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951227	NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)	CACNA1A (F146fs)	Insertion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951220	NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu)	CACNA1A (A747E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950982	NM_001127222.2(CACNA1A):c.4866+11C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2950842	NM_001127222.2(CACNA1A):c.4590+5C>G	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950704	NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del)	CACNA1A	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950638	NM_001127222.2(CACNA1A):c.2531C>T (p.Thr844Ile)	CACNA1A (T844I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950622	NM_001127222.2(CACNA1A):c.1547A>C (p.Asp516Ala)	CACNA1A (D517A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950559	NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu)	CACNA1A (P128L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950477	NM_001127222.2(CACNA1A):c.3646C>T (p.Pro1216Ser)	CACNA1A (P1217S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950375	NM_001127222.2(CACNA1A):c.219G>A (p.Thr73=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2950343	NM_001127222.2(CACNA1A):c.4314T>C (p.Tyr1438=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2950268	NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del)	CACNA1A (M1584del +2 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950000	NM_001127222.2(CACNA1A):c.1669-7G>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2949721	NM_001127222.2(CACNA1A):c.1914-20T>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2949612	NM_001127222.2(CACNA1A):c.978+19G>A	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2949372	NM_001127222.2(CACNA1A):c.596T>C (p.Val199Ala)	CACNA1A (V199A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2949363	NM_001127222.2(CACNA1A):c.978+12T>G	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2949239	NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)	CACNA1A (D714H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely pathogenic
Select item 2949205	NM_001127222.2(CACNA1A):c.4278T>C (p.Asn1426=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2949140	NM_001127222.2(CACNA1A):c.3012G>A (p.Arg1004=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948995	NM_001127222.2(CACNA1A):c.1494C>T (p.Leu498=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948766	NM_001127222.2(CACNA1A):c.2633_2649dup (p.Ala884fs)	CACNA1A (A885fs +2 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2948701	NM_001127222.2(CACNA1A):c.4095_4096del (p.Val1365_Phe1366insTer)	CACNA1A, LOC126862864	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2948619	NM_001127222.2(CACNA1A):c.3940A>G (p.Ile1314Val)	CACNA1A, LOC126862865 (I1315V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2948559	NM_001127222.2(CACNA1A):c.6303+5G>A	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2948540	NM_001127222.2(CACNA1A):c.2046C>A (p.Gly682=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948530	NM_001127222.2(CACNA1A):c.4266C>A (p.Leu1422=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948312	NM_001127222.2(CACNA1A):c.3823-16C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948207	NM_001127222.2(CACNA1A):c.5988G>C (p.Thr1996=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948134	NM_001127222.2(CACNA1A):c.4991C>G (p.Ala1664Gly)	CACNA1A (A1664G +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2948114	NM_001127222.2(CACNA1A):c.4867-13G>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948054	NM_001127222.2(CACNA1A):c.6408C>A (p.Asp2136Glu)	CACNA1A (D2136E +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947984	NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)	CACNA1A (A1981D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947977	NM_001127222.2(CACNA1A):c.3267C>T (p.Gly1089=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2947821	NM_001127222.2(CACNA1A):c.800A>G (p.Glu267Gly)	CACNA1A (E267G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947592	NM_001127222.2(CACNA1A):c.5133+2T>A	CACNA1A	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely pathogenic
Select item 2947565	NM_001127222.2(CACNA1A):c.5809A>T (p.Thr1937Ser)	CACNA1A (T1937S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947543	NM_001127222.2(CACNA1A):c.492del (p.Tyr164_Leu165insTer)	CACNA1A	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2947516	NM_001127222.2(CACNA1A):c.6527G>A (p.Gly2176Asp)	CACNA1A (G2179D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947460	NM_001127222.2(CACNA1A):c.5416G>A (p.Val1806Ile)	CACNA1A (V1807I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947396	NM_001127222.2(CACNA1A):c.632-3C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947219	NM_001127222.2(CACNA1A):c.3685A>G (p.Thr1229Ala)	CACNA1A (T1229A +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2946930	NM_001127222.2(CACNA1A):c.1248del (p.Phe417fs)	CACNA1A (F417fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2946928	NM_001127222.2(CACNA1A):c.6512C>T (p.Thr2171Ile)	CACNA1A (T2171I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2946726	NM_001127222.2(CACNA1A):c.1323G>A (p.Gln441=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2946672	NM_001127222.2(CACNA1A):c.4032C>G (p.Leu1344=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2946653	NM_001127222.2(CACNA1A):c.5626-5T>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2946622	NM_001127222.2(CACNA1A):c.1719C>T (p.Gly573=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2946599	NM_001127222.2(CACNA1A):c.5529-1249G>T	CACNA1A (D1851Y)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2946509	NM_001127222.2(CACNA1A):c.2627G>A (p.Gly876Asp)	CACNA1A (G877D +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2946450	NM_001127222.2(CACNA1A):c.4591-17T>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2946399	NM_001127222.2(CACNA1A):c.3089+4A>G	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2946371	NM_001127222.2(CACNA1A):c.3515C>T (p.Pro1172Leu)	CACNA1A (P1172L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2946207	NM_001127222.2(CACNA1A):c.5068-3C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2946155	NM_001127222.2(CACNA1A):c.1881C>G (p.Phe627Leu)	CACNA1A (F628L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2946127	NM_001127222.2(CACNA1A):c.5529-1185G>C	CACNA1A (R1872T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2946119	NM_001127222.2(CACNA1A):c.547G>A (p.Ala183Thr)	CACNA1A (A183T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign

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